Last Posted: Feb 08, 2021
- Clinical characteristics, outcome, and predictors of neurological sequelae of persistent congenital hyperinsulinism: A single tertiary center experience.
Laimon Wafaa, et al. Pediatric diabetes 2021 2
- Refinement of the critical genomic region for hypoglycaemia in the Chromosome 9p deletion syndrome.
Banerjee Indraneel et al. Wellcome open research 2019 4149
- Clinical Efficacy Evaluation of Sirolimus in Congenital Hyperinsulinism.
Hashemian Somayyeh et al. International journal of endocrinology 2020 20207250406
- Congenital hyperinsulinism disorders: Genetic and clinical characteristics.
Rosenfeld Elizabeth et al. American journal of medical genetics. Part C, Seminars in medical genetics 2019 181(4) 682-692
- Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389.
Yau Daphne et al. PloS one 2020 15(2) e0228417
- Diagnostic Genetic Testing for Monogenic Diabetes and Congenital Hyperinsulinemia.
Houghton Jayne A L et al. Methods in molecular biology (Clifton, N.J.) 2020 2076129-177
- Prolonged episodes of hypoglycaemia in HNF4A-MODY mutation carriers with IGT. Evidence of persistent hyperinsulinism into early adulthood.
Bacon S, et al. Acta diabetologica 2016 8
- Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk.
Vedovato Natascia, et al. Diabetologia 2016 4
- Feeding Problems Are Persistent in Children with Severe Congenital Hyperinsulinism.
Banerjee Indraneel, et al. Frontiers in endocrinology 2016 0 8
- Clinical and Genetic Characteristics, Management and Long-Term Follow-Up of Turkish Patients with Congenital Hyperinsulinism.
Güven Ayla, et al. Journal of clinical research in pediatric endocrinology 2015 12
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.